Clinical and Radiological Features in CADASIL and NOTCH3-Negative Patients: A Multicenter Study from Turkey

Basit Öğe Kaydı
dc.authoridŞenel, Gulcin Benbir/0000-0003-4585-2840
dc.authoridOZTURK, SEREFNUR/0000-0001-8986-155X
dc.authoridSAİP, SABAHATTİN/0000-0002-2802-7227
dc.authoridSiva, Aksel/0000-0002-8340-6641
dc.authoridAfsar, Nazire/0000-0001-8123-8560
dc.authoridUYGUNER, OYA Zehra/0000-0002-2035-4338
dc.authoridVarlibas, Figen/0000-0002-4412-5644
dc.authorwosidŞenel, Gulcin Benbir/AAB-3101-2020
dc.authorwosidOZTURK, SEREFNUR/AAG-4973-2019
dc.authorwosidSAİP, SABAHATTİN/AAE-2410-2021
dc.authorwosidOrken, Dilek Necioglu/AAQ-7978-2020
dc.authorwosidSiva, Aksel/A-5132-2016
dc.authorwosidAfsar, Nazire/AAN-2537-2020
dc.authorwosidUYGUNER, OYA Zehra/Y-3899-2018
dc.contributor.authorInce, Birsen
dc.contributor.authorBenbir, Gulcin
dc.contributor.authorSiva, Aksel
dc.contributor.authorSaip, Sabahattin
dc.contributor.authorUtku, Ufuk
dc.contributor.authorCelik, Yahya
dc.contributor.authorNecioglu-Orken, Dilek
dc.date.accessioned2024-06-12T10:55:27Z
dc.date.available2024-06-12T10:55:27Z
dc.date.issued2014
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBackground: The diversity of clinical presentation and neuroimaging findings of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) from different regions of the world has not yet been studied in depth. Here we investigated the variability of clinical, radiological and genetic data of 48 patients analyzed for NOTCH3 mutation in Turkey. Methods: Clinical evaluation was made according to a preformed questionnaire. Cranial neuroimaging findings were determined on the basis of T1, T2, FLAIR and proton-density magnetic resonance scans. For genetic analysis, polymerase chain reaction was performed with primers flanking exons 2-6 and 11 of NOTCH3 gene. Results:Twenty-five patients (52.1%) were diagnosed as CADASIL with NOTCH3 mutation, while 23 patients (47.9%) had no mutation (NOTCH3-negative patients). The mean age and age at stroke onset were lower in male CADASIL patients (p < 0.03). A family history of migraine (p = 0.012), stroke (p < 0.001), recurrent strokes (p = 0.020) and dementia (p = 0.012) was more common in CADASIL patients. Temporal pole involvement was more common in CADASIL patients (p = 0.004). Conclusion: It is of clinical importance to identify the heterogeneity of CADASIL from different countries due to a low correlation of clinical and radiological data with respect to NOTCH3 mutation. (C) 2014 S. Karger AG, Baselen_US
dc.identifier.doi10.1159/000360530
dc.identifier.endpage131en_US
dc.identifier.issn0014-3022
dc.identifier.issn1421-9913
dc.identifier.issue3-4en_US
dc.identifier.pmid25095812en_US
dc.identifier.scopus2-s2.0-84906016525en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage125en_US
dc.identifier.urihttps://doi.org/10.1159/000360530
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19429
dc.identifier.volume72en_US
dc.identifier.wosWOS:000343381000001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofEuropean Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCADASILen_US
dc.subjectNOTCH3-Negative Patientsen_US
dc.subjectRadiological Featuresen_US
dc.subjectAutosomal-Dominant Arteriopathyen_US
dc.subjectNotch3 Gene-Mutationsen_US
dc.subjectSubcortical Infarctsen_US
dc.subjectSelect Patientsen_US
dc.subjectScreening Toolen_US
dc.subjectLeukoencephalopathyen_US
dc.subjectPatternsen_US
dc.subjectFamiliesen_US
dc.subjectSpectrumen_US
dc.subjectStrokeen_US
dc.titleClinical and Radiological Features in CADASIL and NOTCH3-Negative Patients: A Multicenter Study from Turkeyen_US
dc.typeArticleen_US

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